Canonical Allele Identifier: CA2074833
Gene: FASTKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 376842
ClinVar RCV Id: RCV000442317 RCV001136866 RCV003912596
dbSNP Id: rs141447598
ExAC: 2:207631566 A / G
gnomAD v2: 2-207631566-A-G
gnomAD v3: 2-206766842-A-G
gnomAD v4: 2-206766842-A-G
MyVariant Identifiers: chr2:g.207631566A>G (hg19) chr2:g.206766842A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206766842A>G , CM000664.2:g.206766842A>G GRCh38
NC_000002.11:g.207631566A>G , CM000664.1:g.207631566A>G GRCh37
NC_000002.10:g.207339811A>G NCBI36
NG_008984.1:g.6455A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.149A>G MANE Select ENSP00000385990.3:p.Lys50Arg
ENST00000236980.10:c.149A>G ENSP00000236980.6:p.Lys50Arg
ENST00000402774.7:c.149A>G ENSP00000385990.3:p.Lys50Arg
ENST00000403094.3:c.149A>G ENSP00000384929.3:p.Lys50Arg
ENST00000418289.1:c.149A>G ENSP00000409927.1:p.Lys50Arg
ENST00000487777.5:n.207A>G
NM_001136193.1:c.149A>G NP_001129665.1:p.Lys50Arg
NM_001136194.1:c.149A>G NP_001129666.1:p.Lys50Arg
NM_014929.3:c.149A>G NP_055744.2:p.Lys50Arg
NM_001136193.2:c.149A>G MANE Select NP_001129665.1:p.Lys50Arg
NM_001136194.2:c.149A>G NP_001129666.1:p.Lys50Arg
NM_014929.4:c.149A>G NP_055744.2:p.Lys50Arg
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